Copy Number Variants / 13q14.2

13q14.2

Case population data
Control population data
Type
Deletion-Duplication
Average Length
192872
Range
47048100-47569100
Associated Human Genes
HTR2A, SETDB2
Associated Animal Models
-
Autism Reports
12
Populations
18 (12 case / 6 control)
Individuals
28 (19 case / 9 control)
Summary

Summary statement in development

Reports related to 13q14.2 (12 Reports)
# Type Title Author, Year
1 Major Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Autism Genome Project Consortium , et al. (2007)
2 Major Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder. Christian SL , et al. (2008)
3 Major Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders. Rosenfeld JA , et al. (2010)
4 Minor Rare structural variation of synapse and neurotransmission genes in autism. Gai X , et al. (2011)
5 Minor Novel copy number variants in children with autism and additional developmental anomalies. Davis LK , et al. (2009)
6 Minor Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Sanders SJ , et al. (2011)
7 Minor Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link wi... Lesca G , et al. (2012)
8 Minor Transmission disequilibrium of small CNVs in simplex autism. Krumm N , et al. (2013)
9 Minor Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder. Poultney CS , et al. (2013)
10 Minor Performance of case-control rare copy number variation annotation in classification of autism. Engchuan W , et al. (2015)
11 Major Excess of rare, inherited truncating mutations in autism. Krumm N , et al. (2015)
12 Minor Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders. Pfundt R , et al. (2016)
Show all Case Details Show all Cohort Details

13q14.2

Description:

Epilepsy patients collected at four French hospitals from 2009: Strasbourg Univ. Hospital (n=40), Lyons Univ. Hospital (n=18), Henri Gastaut Hospital (St. Paul Centre) in Marseille (n=2), and Reims American Memorial Hospital (n=1).

Diagnosis:

Epilepsy/epileptic encephalopathy. 41 patients with continuous spike and wave during slow-wave sleep syndrome (CSWSS), 20 patients with Landau-Kleffner syndrome (LKS). 12 (out of 57) patients displayed autistic features; ADHD features (hyperactivity, attention deficit and/or aggressiveness) reported in 41/58 patients,

Lesca G , et al. (2012)
Cohort Size: 61

Age Min: -
Age Max: -
Average: -

Male: -
Female: 100
Unknown: -
CNV Size: 33000

Deletion: 0
Duplication: 1

Total CNV: 1
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q14.2

Description:

Autistic cases from Autism Genetic Research Exchange (AGRE)

Diagnosis:

ASD: diagnosis confirmed through ADI and in some cases ADOS-G. 17 cases with syndromic autism (autism and less than common craniofacial dysmorphology, limb or digit abnormality, or ocular abnormality), 19 cases selected at random with autism and no associated syndromic features

Davis LK , et al. (2009)
Cohort Size: 36

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 308489

Deletion: 0
Duplication: 1

Total CNV: 1
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q14.2

Description:

Replication case samples derived from AGRE sets 1-3

Diagnosis:

Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes

Gai X , et al. (2011)
Cohort Size: 593

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 40624

Deletion: 1
Duplication: 0

Total CNV: 1
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q14.2

Description:

Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)

Diagnosis:

Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits

Krumm N , et al. (2013)
Cohort Size: 411

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 1546

Deletion: 1
Duplication: 0

Total CNV: 1
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q14.2

Description:

Probands from the Simons Simplex Collection

Diagnosis:

Diagnosis of ASD

Krumm N , et al. (2015)
Cohort Size: 2377

Age Min: -
Age Max: -
Average: -

Male: 50
Female: 50
Unknown: -
CNV Size: 257638

Deletion: 0
Duplication: 4

Total CNV: 4
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q14.2

Description:

Subset of a cohort of 2,603 patients affected by genetic disorders for which exome seqeuncing was performed in a diagnostic setting

Diagnosis:

Neurodevelopmental disorders

Pfundt R , et al. (2016)
Cohort Size: 1215

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 1081004

Deletion: 1
Duplication: 0

Total CNV: 1
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q14.2

Description:

Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.

Diagnosis:

ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 ± 1.5 (mean verbal IQ, 81.9 ± 1.7; mean non-verbal IQ, 88.4 ± 1.4)

Sanders SJ , et al. (2011)
Cohort Size: 1124

Age Min: -
Age Max: -
Average: -

Male: 86
Female: 14
Unknown: -
CNV Size: 140841

Deletion: 2
Duplication: 2

Total CNV: 4
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q14.2

Description:

Samples from the Autism Genome Project (AGP)

Diagnosis:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Engchuan W , et al. (2015)
Cohort Size: 1892

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 143635

Deletion: 0
Duplication: 1

Total CNV: 1
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q14.2

Description:

ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)

Diagnosis:

Cases diagnosed with ASD

Poultney CS , et al. (2013)
Cohort Size: 299

Age Min: -
Age Max: -
Average: -

Male: -
Female: 100
Unknown: -
CNV Size: 59542

Deletion: 1
Duplication: 0

Total CNV: 1
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q14.2

Description:

Autism Genome Project Consortium (AGP): ASD patients from 173 families with at least two affected individuals.

Diagnosis:

Patients diagnosed with ASD based on ADI-R and ADOS

Autism Genome Project Consortium , et al. (2007)
Cohort Size: 196

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 521000

Deletion: 0
Duplication: 2

Total CNV: 2
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q14.2

Description:

Subset of unrelated AGRE subjects (362 from multiplex families, 35 from simplex families)

Diagnosis:

ASD

Christian SL , et al. (2008)
Cohort Size: 397

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 393000

Deletion: 0
Duplication: 1

Total CNV: 1
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q14.2

Description:

Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)

Diagnosis:

ASD

Rosenfeld JA , et al. (2010)
Cohort Size: 1461

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 457963

Deletion: 0
Duplication: 1

Total CNV: 1
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -
Show all Case Details Show all Cohort Details

lesca_12_EP_discovery_cases-caseDY42

Clinical Profile:

Phenotype: LKS-woESES. Seizure Characteristics: GTCS, PS. Autistic features: No. ADHD features: Yes. Other features: None.

Cognitive Profile:

Initial cognitive development: Delayed. Cognitive regression: Yes. Verbal IQ 46, performance IQ 58 (at 11.25 years of age).

Lesca G , et al. (2012)
Primary Diagnosis: Epilepsy

Age: NA

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 48001345
CNV End: 48034189
CNV Size: 33000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: UCSC Genome Browser build37
Gene Content: -

pfundt_16_NDD_discovery_cases-case18

Clinical Profile:

Disease cohort: neurodevelopmental disorder. Description: SULA2 deletion

Cognitive Profile:

-

Pfundt R , et al. (2016)
Primary Diagnosis: NDD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 47466524
CNV End: 48547528
CNV Size: 1081004
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: -
Family Profile: -
Genome Build: Not reported (likely GRCh37/hg19)
Gene Content: -

davis_09_ASD_discovery_cases-AU038303

Clinical Profile:

Diagnosis: Autism/spectrum on ADOS. Non-syndromic autism (no craniofacial dysmorphology, limb or digit malformation, or ocular abnormality).

Cognitive Profile:

-

Davis LK , et al. (2009)
Primary Diagnosis: Non-syndromic ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 47021448
CNV End: 47329937
CNV Size: 308489
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Multiplex
Genome Build: -
Gene Content: -

gai_11_ASD_replication_cases-AU016403

Clinical Profile:

-

Cognitive Profile:

-

Gai X , et al. (2011)
Primary Diagnosis: Autism

Age: -

Gender: -
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 47143354
CNV End: 47183977
CNV Size: 40624
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: -
Genome Build: -
Gene Content: -

sanders_11_ASD_discovery_cases-12289.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 101; non-verbal IQ, 109; verbal IQ, 86

Sanders SJ , et al. (2011)
Primary Diagnosis: ASD

Age: 12

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 47357902
CNV End: 47391055
CNV Size: 33153
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-12363.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 108; non-verbal IQ, 108; verbal IQ, 106

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 14

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 46904266
CNV End: 46911242
CNV Size: 6976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-12469.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 125; non-verbal IQ, 105; verbal IQ, 151

Sanders SJ , et al. (2011)
Primary Diagnosis: Aspergers

Age: 10

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 46232646
CNV End: 46244300
CNV Size: 11654
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_cases-13076.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 89; non-verbal IQ, 85; verbal IQ, 102

Sanders SJ , et al. (2011)
Primary Diagnosis: ASD

Age: 6

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 48695561
CNV End: 48836402
CNV Size: 140841
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: hg18
Gene Content: CAB39L, CDADC1

christian_08_ASD_discovery_cases-AU038304

Clinical Profile:

NA

Cognitive Profile:

NA

Christian SL , et al. (2008)
Primary Diagnosis: ASD

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 46981038
CNV End: 47373965
CNV Size: 393000
Validation Description: FISH, microsatellite
Primary Disorder Inheritence: -
CNV Inheritance: inherited
Family Profile: Multiplex
Genome Build: UCSC Build36
Gene Content: -

krumm_13_ASD_discovery_cases-case13808.p1

Clinical Profile:

ASD proband from SSC quad family 13808. SRS score of 79.

Cognitive Profile:

Full-scale IQ (FSIQ) score of 40.

Krumm N , et al. (2013)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 49084764
CNV End: 49086310
CNV Size: 1546
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: -

krumm_15_ASD_discovery_cases-case11083.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Trio

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 50125461
CNV End: 50141415
CNV Size: 15954
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: RCBTB1, Intron (7/12), Exon (7/13), Intron (6/12), Exon (6/13), Intron (5/12), Exon (5/13), Intron (4/12), Exon (4/13), Intron (3/12)

krumm_15_ASD_discovery_cases-case13076.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 49796175
CNV End: 49933968
CNV Size: 137793
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: MLNR, CDADC1, CAB39L, Exon (1/10), Intron (1/9), Intron (2/9), Intron (3/9), Exon (4/10), Intron (4/9), Exon (5/10), Intron (5/9), Intron (6/9), Exon (7/10), Intron (7/9), Exon (8/10), Intron (8/9), Exon (9/10), Intron (9/9), Exon (10/10), Exon (9/9), Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Intron (5/8), Exon (5/9), Intron (4/8), Exon (12/12), Intron (11/11), Exon (11/12), Intron (10/11), Exon (10/12), Intron (9/11), Intron (8/11), Exon (8/12), Intron (7/11), Exon (6/10), Exon (11/11), Intron (10/10), Exon (10/11), Intron (9/10), Exon (9/11), Intron (8/10), Intron (7/10), Exon (7/11), Intron (6/10)

krumm_15_ASD_discovery_cases-case13400.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Trio

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Female
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 50041999
CNV End: 50299637
CNV Size: 257638
Validation Description: 1M-Duov3
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: SETDB2, PHF11, RCBTB1, ARL11, EBPL, KPNA3, Intron (6/14), Exon (7/15), Intron (7/14), Intron (8/14), Intron (9/14), Exon (10/15), Exon (11/15), Intron (11/14), Intron (12/14), Exon (13/15), Intron (13/14), Intron (14/14), Exon (15/15), Intron (4/12), Exon (5/13), Intron (5/12), Intron (6/12), Intron (7/12), Exon (8/13), Exon (9/13), Intron (9/12), Intron (10/12), Exon (11/13), Intron (11/12), Intron (12/12), Exon (13/13), Exon (1/10), Intron (1/9), Exon (2/10), Intron (2/9), Exon (3/10), Intron (3/9), Intron (4/9), Intron (5/9), Intron (6/9), Intron (7/9), Intron (8/9), Intron (9/9), Exon (10/10), Exon (1/11), Exon (2/11), Intron (2/10), Exon (3/11), Intron (3/10), Exon (4/11), Intron (4/10), Intron (5/10), Intron (6/10), Intron (7/10), Intron (8/10), Intron (9/10), Intron (10/10), Exon (11/11), Exon (10/13), Intron (8/12), Intron (3/12), Intron (2/12), Intron (1/12), Exon (1/2), Intron (1/1), Exon (2/2), Exon (5/5), Intron (4/4), Intron (3/4), Intron (2/4), Intron (1/4), Exon (1/5), Exon (4/4), Intron (3/3), Intron (2/3), Intron (1/3), Exon (1/4), Exon (17/17), Intron (16/16), Intron (15/16), Exon (15/17), Intron (12/16), Intron (11/16), Exon (11/17), Intron (10/16), Intron (9/16)

krumm_15_ASD_discovery_cases-case13577.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 50134053
CNV End: 50141417
CNV Size: 7364
Validation Description: 1M-Duov3
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: RCBTB1, Exon (5/13), Intron (4/12), Exon (4/13), Intron (3/12), Exon (3/13)

engchuan_15_ASD_discovery_cases-case6254_3

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 46654031
CNV End: 46797666
CNV Size: 143635
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

rosenfeld_10_ASD_discovery_cases-case11092

Clinical Profile:

NA

Cognitive Profile:

NA

Rosenfeld JA , et al. (2010)
Primary Diagnosis: ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 46386690
CNV End: 46844653
CNV Size: 457963
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: -
Gene Content: -

poultney_13_ASD_discovery_cases-case05HI4308A

Clinical Profile:

ASD case from AGRE (AGRE ID AU1220301; NDAR ID NDAR_INVUY718AWP)

Cognitive Profile:

-

Poultney CS , et al. (2013)
Primary Diagnosis: ASD

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown (likely multiplex/AGRE)
CNV Start: 49030338
CNV End: 49089879
CNV Size: 59542
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown (likely multiplex/AGRE)
Genome Build: hg19
Gene Content: RB1, RCBTB2

szatmari_07_ASD_discovery_cases-NAAR054-F3-HI0298

Clinical Profile:

NA

Cognitive Profile:

NA

Autism Genome Project Consortium , et al. (2007)
Primary Diagnosis: ASD

Age: NA

Gender: -
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 47048100
CNV End: 47569100
CNV Size: 521000
Validation Description: Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: NCBI Build35
Gene Content: SUCLA2, NUDT15, MED4

szatmari_07_ASD_discovery_cases-NAAR054-F4-HI0299

Clinical Profile:

NA

Cognitive Profile:

NA

Autism Genome Project Consortium , et al. (2007)
Primary Diagnosis: ASD

Age: NA

Gender: -
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 47048100
CNV End: 47569100
CNV Size: 521000
Validation Description: Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: NCBI Build35
Gene Content: SUCLA2, NUDT15, MED4
Show all Control Details Show all Cohort Details

13q14.2

Description:

Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)

Diagnosis:

Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits

Krumm N , et al. (2013)
Cohort Size: 411

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 10627

Deletion: 1
Duplication: 1

Total CNV: 2
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q14.2

Description:

Unaffected siblings from quad families from the Simons Simplex Collection

Diagnosis:

Control

Krumm N , et al. (2015)
Cohort Size: 1786

Age Min: -
Age Max: -
Average: -

Male: 50
Female: 50
Unknown: -
CNV Size: 137793

Deletion: 0
Duplication: 2

Total CNV: 2
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q14.2

Description:

Matched siblings of autistic probands from the Simons Simplex Collection (SSC).

Diagnosis:

Controls

Sanders SJ , et al. (2011)
Cohort Size: 872

Age Min: -
Age Max: -
Average: -

Male: 86
Female: 14
Unknown: -
CNV Size: 140841

Deletion: 1
Duplication: 2

Total CNV: 3
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q14.2

Description:

Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)

Diagnosis:

Controls; subjects had no previous psychiatric history

Engchuan W , et al. (2015)
Cohort Size: 2342

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 808410

Deletion: 0
Duplication: 2

Total CNV: 2
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q14.2

Description:

Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)

Diagnosis:

Control

Poultney CS , et al. (2013)
Cohort Size: 260

Age Min: -
Age Max: -
Average: -

Male: -
Female: 100
Unknown: -
CNV Size: 0

Deletion: 0
Duplication: 0

Total CNV: 0
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -

13q14.2

Description:

Control subjects from NIMH Genetics Initiative Control sample set, characterized for Axis I disorders

Diagnosis:

Controls

Christian SL , et al. (2008)
Cohort Size: 372

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 393000

Deletion: 0
Duplication: 0

Total CNV: 0
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -
Show all Control Details Show all Cohort Details

sanders_11_ASD_discovery_controls-12091.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Sanders SJ , et al. (2011)
Primary Diagnosis: Control (matched sibling)

Age: 7

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 46904266
CNV End: 46911242
CNV Size: 6976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-12289.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Sanders SJ , et al. (2011)
Primary Diagnosis: Control (matched sibling)

Age: 16

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 47360704
CNV End: 47391055
CNV Size: 30351
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: -

sanders_11_ASD_discovery_controls-13076.s1

Clinical Profile:

NA

Cognitive Profile:

NA

Sanders SJ , et al. (2011)
Primary Diagnosis: Control (matched sibling)

Age: 19

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad)
CNV Start: 48695561
CNV End: 48836402
CNV Size: 140841
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: hg18
Gene Content: CAB39L, CDADC1

krumm_13_ASD_discovery_controls-control11298.s1

Clinical Profile:

Unaffected sibling from SSC quad family 11298. SRS score of 37.

Cognitive Profile:

-

Krumm N , et al. (2013)
Primary Diagnosis: Control

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 50123593
CNV End: 50134220
CNV Size: 10627
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: -

krumm_13_ASD_discovery_controls-control13808.s1

Clinical Profile:

Unaffected sibling from SSC quad family 13808. SRS score of 44.

Cognitive Profile:

-

Krumm N , et al. (2013)
Primary Diagnosis: Control

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 49084764
CNV End: 49086310
CNV Size: 1546
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg19
Gene Content: -

krumm_15_ASD_discovery_controls-control13076.s1

Clinical Profile:

Unaffected sibling from the Simons Simplex Collection (SSC)

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: Female
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 49796175
CNV End: 49933968
CNV Size: 137793
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: hg19
Gene Content: MLNR, CDADC1, CAB39L, Exon (1/10), Intron (1/9), Intron (2/9), Intron (3/9), Exon (4/10), Intron (4/9), Exon (5/10), Intron (5/9), Intron (6/9), Exon (7/10), Intron (7/9), Exon (8/10), Intron (8/9), Exon (9/10), Intron (9/9), Exon (10/10), Exon (9/9), Intron (8/8), Exon (8/9), Intron (7/8), Exon (7/9), Intron (6/8), Intron (5/8), Exon (5/9), Intron (4/8), Exon (12/12), Intron (11/11), Exon (11/12), Intron (10/11), Exon (10/12), Intron (9/11), Intron (8/11), Exon (8/12), Intron (7/11), Exon (6/10), Exon (11/11), Intron (10/10), Exon (10/11), Intron (9/10), Exon (9/11), Intron (8/10), Intron (7/10), Exon (7/11), Intron (6/10)

krumm_15_ASD_discovery_controls-control13577.s1

Clinical Profile:

Unaffected sibling from the Simons Simplex Collection (SSC)

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: Female
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 50134053
CNV End: 50141417
CNV Size: 7364
Validation Description: 1M-Duov3
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: hg19
Gene Content: RCBTB1, Exon (5/13), Intron (4/12), Exon (4/13), Intron (3/12), Exon (3/13)

engchuan_15_ASD_discovery_controls-controlHABC_900264_900264

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 46266852
CNV End: 47075262
CNV Size: 808410
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -

engchuan_15_ASD_discovery_controls-controlHABC_900387_900387

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 48455806
CNV End: 48540141
CNV Size: 84335
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: hg18
Gene Content: -
Genes associated with 13q14.2(0 Models)
HTR2A 4  /  9 Rare Single Gene Mutation, Genetic Association
Score
5
SETDB2 1  /  2 Rare Single Gene Mutation, Syndromic
Score
4
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